FAM201A

Chr 9AR

family with sequence similarity 201 member A

Also known as: C9orf122

NCBI Gene: 158228 ENSG00000204860 UniProt: Q5SY85 OMIM: 617975

I don't have sufficient information provided about the FAM201A gene to write a clinical summary following the strict rules you've outlined. To create an accurate 2-3 sentence summary, I would need data about the protein function, associated diseases/phenotypes, inheritance pattern, and potentially constraint metrics (pLI/LOEUF) for this gene. Could you please provide the clinical and functional information for FAM201A that should be included in the summary?

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasiaMIM #621650

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Spondyloepimetaphyseal dysplasia with tracheal stenosis and ectodermal dysplasia; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in FAM201A?

gnomAD v4 · ~562k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 45,000

4 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in FAM201A; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 2 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~463k	none seen	1 in 28,000
South Asian	~26k	none seen	≈ 1 in 11,000

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.